Mutagenetix > Incidental Mutation

Incidental Mutation 'R6684:Fam221a'

527611

Institutional Source

Beutler Lab

Gene Symbol

Fam221a

Ensembl Gene

ENSMUSG00000047115

Gene Name

family with sequence similarity 221, member A

Synonyms

D330028D13Rik

MMRRC Submission

044803-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R6684 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49344673-49367473 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 49349542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 36 (E36*)

Ref Sequence

ENSEMBL: ENSMUSP00000113242 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060561] [ENSMUST00000121903] [ENSMUST00000134786]

AlphaFold

Q8C790

Predicted Effect

probably null
Transcript: ENSMUST00000060561
AA Change: E36*

SMART Domains

Protein: ENSMUSP00000050237
Gene: ENSMUSG00000047115
AA Change: E36*

Domain	Start	End	E-Value	Type
Pfam:DUF4475	20	214	2.6e-100	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000121903
AA Change: E36*

SMART Domains

Protein: ENSMUSP00000113242
Gene: ENSMUSG00000047115
AA Change: E36*

Domain	Start	End	E-Value	Type
Pfam:DUF4475	20	216	9.7e-101	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134786

SMART Domains

Protein: ENSMUSP00000114554
Gene: ENSMUSG00000047115

Domain	Start	End	E-Value	Type
Pfam:DUF4475	1	63	4.6e-33	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

94% (33/35)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	G	A	5: 24,774,137 (GRCm39)	R322W	probably damaging	Het
Capns1	C	A	7: 29,893,324 (GRCm39)	G63V	probably damaging	Het
Carmil1	G	A	13: 24,206,525 (GRCm39)	T5M	unknown	Het
Cr2	T	A	1: 194,853,329 (GRCm39)	K70*	probably null	Het
Dapk1	T	A	13: 60,908,708 (GRCm39)	I1107N	probably damaging	Het
Ehd4	A	G	2: 119,984,815 (GRCm39)	F48L	probably damaging	Het
Fam81b	G	A	13: 76,350,157 (GRCm39)	Q423*	probably null	Het
Galnt7	C	T	8: 57,991,143 (GRCm39)	V456I	probably benign	Het
Gm10801	C	CGTA	2: 98,494,152 (GRCm39)		probably null	Het
Hrc	A	G	7: 44,985,956 (GRCm39)	H369R	possibly damaging	Het
Impg2	T	G	16: 56,080,292 (GRCm39)	S590A	probably benign	Het
Lcn3	A	T	2: 25,656,170 (GRCm39)	H75L	probably benign	Het
Lims1	T	A	10: 58,234,835 (GRCm39)		probably null	Het
Lkaaear1	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	2: 181,339,354 (GRCm39)		probably benign	Het
Or5p79	A	G	7: 108,221,141 (GRCm39)	T41A	probably damaging	Het
Orai3	A	G	7: 127,372,892 (GRCm39)	N131S	probably damaging	Het
Pcdhga7	T	C	18: 37,849,103 (GRCm39)	L370P	probably damaging	Het
Phtf2	A	G	5: 21,017,937 (GRCm39)		probably benign	Het
Plcg2	T	C	8: 118,323,071 (GRCm39)	Y709H	probably damaging	Het
Pmfbp1	T	C	8: 110,262,462 (GRCm39)	S719P	probably benign	Het
Polr3g	A	T	13: 81,847,650 (GRCm39)		probably null	Het
Ppp4r1	G	A	17: 66,131,337 (GRCm39)	A360T	probably benign	Het
Pramel6	T	C	2: 87,339,748 (GRCm39)	W171R	probably damaging	Het
Rad54b	T	C	4: 11,583,689 (GRCm39)		probably benign	Het
Rasl10a	G	A	11: 5,008,396 (GRCm39)	E31K	possibly damaging	Het
Ryr3	T	C	2: 112,583,433 (GRCm39)	R2813G	probably damaging	Het
Tmem71	A	G	15: 66,413,539 (GRCm39)	S178P	possibly damaging	Het
Trim58	A	G	11: 58,542,446 (GRCm39)	T469A	probably benign	Het
Vash1	A	G	12: 86,735,683 (GRCm39)	T190A	probably damaging	Het
Ythdc2	T	C	18: 45,006,136 (GRCm39)	S1210P	possibly damaging	Het
Zfp42	G	A	8: 43,749,093 (GRCm39)	T136M	possibly damaging	Het
Zfp595	T	C	13: 67,468,341 (GRCm39)	Y72C	probably damaging	Het

Other mutations in Fam221a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02802:Fam221a	UTSW	6	49,355,411 (GRCm39)	missense	probably damaging	1.00
R3713:Fam221a	UTSW	6	49,349,548 (GRCm39)	missense	probably damaging	1.00
R3747:Fam221a	UTSW	6	49,349,630 (GRCm39)	missense	probably damaging	1.00
R3748:Fam221a	UTSW	6	49,349,630 (GRCm39)	missense	probably damaging	1.00
R4386:Fam221a	UTSW	6	49,355,366 (GRCm39)	missense	probably damaging	1.00
R5362:Fam221a	UTSW	6	49,353,049 (GRCm39)	missense	probably damaging	1.00
R5763:Fam221a	UTSW	6	49,355,518 (GRCm39)	missense	probably damaging	1.00
R6005:Fam221a	UTSW	6	49,344,756 (GRCm39)	unclassified	probably benign
R7069:Fam221a	UTSW	6	49,355,432 (GRCm39)	missense	probably damaging	0.99
R7732:Fam221a	UTSW	6	49,349,563 (GRCm39)	missense	probably benign	0.21
R8152:Fam221a	UTSW	6	49,355,490 (GRCm39)	missense	probably damaging	1.00
R9471:Fam221a	UTSW	6	49,349,520 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGCTGGCTCAAGACATTG -3'
(R):5'- TGTTATTTACAGGAGGAAGACACG -3'

Sequencing Primer
(F):5'- GCTGGCTCAAGACATTGTTCACAC -3'
(R):5'- TTACAGGAGGAAGACACGTTTTTGC -3'

Posted On

2018-07-23